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Gene: CPS1 (carbamoyl-phosphate synthase 1) Homo sapiens
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Symbol: CPS1
Name: carbamoyl-phosphate synthase 1
Description: Exhibits carbamoyl-phosphate synthase (ammonia) activity and modified amino acid binding activity. Predicted to contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Involved in several processes, including carbamoyl phosphate biosynthetic process; cellular response to ammonia; and triglyceride catabolic process. Localizes to mitochondrial nucleoid and nucleolus. Implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: carbamoyl-phosphate synthase (ammonia); carbamoyl-phosphate synthase 1, mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoylphosphate synthetase I; CPSASE1; PHN
Orthologs:
Mus musculus (house mouse) : Cps1 (carbamoyl-phosphate synthetase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cps1 (carbamoyl-phosphate synthase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cps1 (carbamoyl-phosphate synthase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : CPS1 (carbamoyl-phosphate synthase 1)
Canis lupus familiaris (dog) : CPS1 (carbamoyl-phosphate synthase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cps1 (carbamoyl-phosphate synthase 1)
Sus scrofa (pig) : CPS1 (carbamoyl-phosphate synthase 1)
Chlorocebus sabaeus (African green monkey) : CPS1 (carbamoyl-phosphate synthase 1)
Heterocephalus glaber (naked mole-rat) : Cps1 (carbamoyl-phosphate synthase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2210,477,682 - 210,679,107 (+)EnsemblGRCh38hg38GRCh38
GRCh382210,477,685 - 210,679,107 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372211,342,406 - 211,543,831 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362211,129,583 - 211,252,076 (+)NCBINCBI36hg18NCBI36
Build 342211,246,843 - 211,369,335NCBI
Celera2205,110,438 - 205,311,714 (+)NCBI
Cytogenetic Map2q34NCBI
HuRef2203,188,451 - 203,390,097 (+)NCBIHuRef
CHM1_12211,348,531 - 211,549,854 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CPS1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 70833
Created: 2002-06-25
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.